Associated Papers
Multiplex neurodegeneration proteotoxicity platform reveals DNAJB6 promotes non-toxic FUS condensate gelation and inhibits neurotoxicity.
Resnick SJ et al.
Nature Communications, 2025
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle.
Inoue M
Journal of Human Genetics, 2025
Structural-functional relevance of DNAJBs in protein aggregation and associated neurodegenerative diseases.
Fatima S et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 2024
DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones.
Abayev-Avraham M et al.
Nature Communications, 2023
DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1.
Findlay AR et al.
Molecular Therapy. Nucleic Acids, 2023
LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.
Findlay AR et al.
Annals of Clinical and Translational Neurology, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
Bengoechea R et al.
The Journal of Clinical Investigation, 2020
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D.
Findlay AR et al.
Neurology. Genetics, 2019
234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017.
Weihl CC et al.
Neuromuscular Disorders : Nmd, 2018
Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.
Finsterer J
Yonsei Medical Journal, 2018
The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.
Kim K et al.
Yonsei Medical Journal, 2018
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.
Bohlega SA et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.
Kim K et al.
Yonsei Medical Journal, 2018
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.
Tsai PC et al.
Clinical Genetics, 2017
Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.
Li S et al.
Human Molecular Genetics, 2016
Human J-protein DnaJB6b Cures a Subset of Saccharomyces cerevisiae Prions and Selectively Blocks Assembly of Structurally Related Amyloids.
Reidy M et al.
The Journal of Biological Chemistry, 2016
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies.
Ruggieri A et al.
Frontiers in Molecular Biosciences, 2016
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.
Palmio J et al.
Neuromuscular Disorders : Nmd, 2015
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.
Nam TS et al.
Neuromuscular Disorders : Nmd, 2015
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Ruggieri A et al.
Acta Neuropathologica Communications, 2015
Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.
Stein KC et al.
The Journal of Biological Chemistry, 2014
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
Couthouis J et al.
Neuromuscular Disorders : Nmd, 2014
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2014
DNAJB6 myopathy: a vacuolar myopathy with childhood onset.
Suarez-Cedeno G et al.
Muscle & Nerve, 2014
J protein mutations and resulting proteostasis collapse.
Koutras C et al.
Frontiers in Cellular Neuroscience, 2014
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
Sato T et al.
Neuromuscular Disorders : Nmd, 2013
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Sarparanta J et al.
Nature Genetics, 2012